Summary stats

General stats about the patient cohort

Stat Value
Unique HPO terms 1476
Cohort size 107
Rejected patients by empty profile 0
HPOs per patient (average) 28.3645
HPO terms per patient: percentile 90 9
Percentage of HPO with more specific children 67.7759
DsI for uniq HP terms 0
DsI for frequency weigthed HP terms 0
Number of unknown phenotypes 0

HPO stats

HPOs more frequent in the cohort

HPO Patient percentage
Seizure 28.037383177570092
Fatigue 25.233644859813083
Abdominal pain 20.5607476635514
Hepatomegaly 19.626168224299064
Splenomegaly 18.69158878504673
Weight loss 18.69158878504673
Thrombocytopenia 16.822429906542055
Headache 14.953271028037381
Fever 14.953271028037381
Hypertension 14.953271028037381
Subcutaneous nodule 14.018691588785046
Anemia 13.084112149532709
Cataract 13.084112149532709
Gastrointestinal hemorrhage 13.084112149532709
Intellectual disability 12.149532710280374
Nausea and vomiting 12.149532710280374
Proteinuria 12.149532710280374
Hematuria 12.149532710280374
Lymphadenopathy 11.214953271028037
Arthralgia 10.2803738317757
Dysphagia 10.2803738317757
Scoliosis 9.345794392523365
Strabismus 9.345794392523365
Respiratory insufficiency 9.345794392523365
Pruritus 9.345794392523365
Chest pain 9.345794392523365
Dyspnea 9.345794392523365
Cough 9.345794392523365
Anorexia 8.411214953271028
Venous thrombosis 8.411214953271028
Depressivity 8.411214953271028
Anxiety 8.411214953271028
Hydrocephalus 8.411214953271028
Glaucoma 8.411214953271028
Hearing impairment 8.411214953271028
Bone pain 8.411214953271028
Paresthesia 7.476635514018691
Macrocephaly 7.476635514018691
Short stature 7.476635514018691
Ataxia 7.476635514018691
Hemoptysis 7.476635514018691
Pulmonary embolism 7.476635514018691
Papule 7.476635514018691
Ascites 7.476635514018691
Elevated hepatic transaminase 7.476635514018691
Retinal detachment 7.476635514018691
Alopecia 7.476635514018691
Recurrent respiratory infections 7.476635514018691
Hypercalcemia 7.476635514018691
Hyperhidrosis 6.5420560747663545
Lymphedema 6.5420560747663545
Renal insufficiency 6.5420560747663545
Blindness 6.5420560747663545
Myocardial infarction 6.5420560747663545
Arterial thrombosis 6.5420560747663545
Congestive heart failure 6.5420560747663545
Muscle weakness 6.5420560747663545
Palpitations 6.5420560747663545
Delayed puberty 6.5420560747663545
Acute kidney injury 6.5420560747663545
Irregular hyperpigmentation 5.607476635514018
Malabsorption 5.607476635514018
Vertigo 5.607476635514018
Developmental regression 5.607476635514018
Jaundice 5.607476635514018
Portal hypertension 5.607476635514018
Gastroesophageal reflux 5.607476635514018
Visual loss 5.607476635514018
Optic atrophy 5.607476635514018
Failure to thrive 5.607476635514018
Macule 5.607476635514018
Cognitive impairment 5.607476635514018
Telangiectasia of the skin 5.607476635514018
Venous insufficiency 5.607476635514018
Skin ulcer 5.607476635514018
Skin rash 5.607476635514018
Pancytopenia 5.607476635514018
Osteolysis 5.607476635514018
Stroke 4.672897196261682
Cerebral hemorrhage 4.672897196261682
Cerebral calcification 4.672897196261682
Neoplasm of the skin 4.672897196261682
Tall stature 4.672897196261682
Hypotonia 4.672897196261682
Angina pectoris 4.672897196261682
Meningioma 4.672897196261682
Joint hyperflexibility 4.672897196261682
Photophobia 4.672897196261682
Arthritis 4.672897196261682
Pancreatitis 4.672897196261682
Migraine 4.672897196261682
Memory impairment 4.672897196261682
Increased intracranial pressure 4.672897196261682
Myalgia 4.672897196261682
Cranial nerve paralysis 4.672897196261682
Gangrene 4.672897196261682
Diabetes mellitus 4.672897196261682
Spasticity 4.672897196261682
Epistaxis 4.672897196261682
Myopia 4.672897196261682
Nephrotic syndrome 4.672897196261682
Microphthalmia 4.672897196261682
Pedal edema 4.672897196261682
Renal cell carcinoma 4.672897196261682
Corneal opacity 4.672897196261682
Hydrops fetalis 4.672897196261682
Microcephaly 4.672897196261682
Cellulitis 4.672897196261682
Osteopenia 4.672897196261682
Pallor 4.672897196261682
Tremor 4.672897196261682
Visual impairment 4.672897196261682
Pulmonary arterial hypertension 4.672897196261682
Recurrent fractures 4.672897196261682
Bone marrow hypocellularity 4.672897196261682
Nephrolithiasis 4.672897196261682
Joint swelling 4.672897196261682
Hypothyroidism 4.672897196261682
Neurological speech impairment 3.7383177570093453
Intracranial hemorrhage 3.7383177570093453
Delayed skeletal maturation 3.7383177570093453
Thyroid carcinoma 3.7383177570093453
Skeletal muscle atrophy 3.7383177570093453
Cachexia 3.7383177570093453
Uterine neoplasm 3.7383177570093453
Visceral angiomatosis 3.7383177570093453
Retinopathy 3.7383177570093453
Irritability 3.7383177570093453
Meningitis 3.7383177570093453
Abnormal myocardium morphology 3.7383177570093453
Pericarditis 3.7383177570093453
Pleural effusion 3.7383177570093453
Cerebral ischemia 3.7383177570093453
Abnormal blistering of the skin 3.7383177570093453
Glomerulopathy 3.7383177570093453
Cirrhosis 3.7383177570093453
Intestinal obstruction 3.7383177570093453
Acute hepatic failure 3.7383177570093453
Adrenocortical carcinoma 3.7383177570093453
Enlarged polycystic ovaries 3.7383177570093453
Stomach cancer 3.7383177570093453
Emotional lability 3.7383177570093453
Transient ischemic attack 3.7383177570093453
Arterial stenosis 3.7383177570093453
Chylothorax 3.7383177570093453
Peripheral arteriovenous fistula 3.7383177570093453
Nystagmus 3.7383177570093453
Patent ductus arteriosus 3.7383177570093453
Cryptorchidism 3.7383177570093453
Abnormality of the voice 3.7383177570093453
Atherosclerosis 3.7383177570093453
Kyphosis 3.7383177570093453
High palate 3.7383177570093453
Hypopigmented skin patches 3.7383177570093453
Abnormality of skin pigmentation 3.7383177570093453
Erythema 3.7383177570093453
Constipation 3.7383177570093453
Neoplasm of the lung 3.7383177570093453
Multiple lipomas 3.7383177570093453
Dry skin 3.7383177570093453
Hyperkeratosis 3.7383177570093453
Skin plaque 3.7383177570093453
Autoimmunity 3.7383177570093453
Chronic kidney disease 3.7383177570093453
Osteoporosis 3.7383177570093453
Multiple renal cysts 3.7383177570093453
Nausea 3.7383177570093453
Peripheral neuropathy 3.7383177570093453
Attention deficit hyperactivity disorder 3.7383177570093453
Sensorineural hearing impairment 3.7383177570093453
Diabetes insipidus 3.7383177570093453
Reduced bone mineral density 3.7383177570093453
Myelodysplasia 3.7383177570093453
Joint stiffness 3.7383177570093453
Pulmonary fibrosis 3.7383177570093453
Osteomyelitis 3.7383177570093453
Diarrhea 3.7383177570093453
Sepsis 3.7383177570093453
Proptosis 3.7383177570093453
Abnormal bleeding 3.7383177570093453
Abdominal distention 3.7383177570093453
Increased lactate dehydrogenase level 3.7383177570093453
Vitreous hemorrhage 3.7383177570093453
Poor appetite 3.7383177570093453
Sarcoma 3.7383177570093453
Thrombocytosis 3.7383177570093453
Leukocytosis 3.7383177570093453
Ependymoma 3.7383177570093453
Acute myeloid leukemia 3.7383177570093453
Astrocytoma 3.7383177570093453
Pheochromocytoma 3.7383177570093453
Behavioral abnormality 2.803738317757009
Dementia 2.803738317757009
Pain 2.803738317757009
Micrognathia 2.803738317757009
Anteverted nares 2.803738317757009
Abnormality of the optic nerve 2.803738317757009
Pectus excavatum 2.803738317757009
Telangiectasia 2.803738317757009
Hypoglycemia 2.803738317757009
Lymphoma 2.803738317757009
Multiple cafe-au-lait spots 2.803738317757009
Lipoma 2.803738317757009
Acne 2.803738317757009
Keratoconjunctivitis sicca 2.803738317757009
Gait disturbance 2.803738317757009
Confusion 2.803738317757009
Hyperreflexia 2.803738317757009
Pulmonary infiltrates 2.803738317757009
Vasculitis 2.803738317757009
Avascular necrosis 2.803738317757009
Cholecystitis 2.803738317757009
Esophageal varix 2.803738317757009
Gastrointestinal infarctions 2.803738317757009
Neoplasm of the pancreas 2.803738317757009
Parathyroid adenoma 2.803738317757009
Colon cancer 2.803738317757009
Adrenal pheochromocytoma 2.803738317757009
Pituitary prolactin cell adenoma 2.803738317757009
Dysarthria 2.803738317757009
Encephalopathy 2.803738317757009
Hemiplegia 2.803738317757009
Abnormal heart morphology 2.803738317757009
Increased body weight 2.803738317757009
Epicanthus 2.803738317757009
Ectopia lentis 2.803738317757009
Depressed nasal bridge 2.803738317757009
Ophthalmoplegia 2.803738317757009
Hyporeflexia 2.803738317757009
Death in infancy 2.803738317757009
Hypothermia 2.803738317757009
Epiretinal membrane 2.803738317757009
Inflammatory abnormality of the eye 2.803738317757009
Abnormal macular morphology 2.803738317757009
Abnormal retinal vascular morphology 2.803738317757009
Retinal hemorrhage 2.803738317757009
Global developmental delay 2.803738317757009
Sensory impairment 2.803738317757009
Abnormality of dental morphology 2.803738317757009
Pericardial effusion 2.803738317757009
Autism 2.803738317757009
Goiter 2.803738317757009
Cavernous hemangioma 2.803738317757009
Melanoma 2.803738317757009
Breast carcinoma 2.803738317757009
Colorectal polyposis 2.803738317757009
Inguinal hernia 2.803738317757009
Low-set ears 2.803738317757009
Iris coloboma 2.803738317757009
Hand polydactyly 2.803738317757009
Umbilical hernia 2.803738317757009
Abnormality of the nail 2.803738317757009
Finger syndactyly 2.803738317757009
Abnormality of the mediastinum 2.803738317757009
Diplopia 2.803738317757009
Neoplasm of the liver 2.803738317757009
Narrow mouth 2.803738317757009
Conductive hearing impairment 2.803738317757009
Decreased circulating antibody level 2.803738317757009
Abnormality of the menstrual cycle 2.803738317757009
Abnormality of coagulation 2.803738317757009
Abnormality of the cerebral vasculature 2.803738317757009
Abnormality of vision 2.803738317757009
Small for gestational age 2.803738317757009
Sleep disturbance 2.803738317757009
Blue sclerae 2.803738317757009
Wormian bones 2.803738317757009
Increased susceptibility to fractures 2.803738317757009
Vomiting 2.803738317757009
Episodic abdominal pain 2.803738317757009
Elevated calcitonin 2.803738317757009
Nephropathy 2.803738317757009
Pathologic fracture 2.803738317757009
Generalized muscle weakness 2.803738317757009
Thickened skin 2.803738317757009
Abnormal pleura morphology 2.803738317757009
Immunodeficiency 2.803738317757009
Hearing abnormality 2.803738317757009
Conjunctival telangiectasia 2.803738317757009
Heterochromia iridis 2.803738317757009
Emphysema 2.803738317757009
Arrhythmia 2.803738317757009
Acute leukemia 2.803738317757009
Prolonged bleeding time 2.803738317757009
Abnormal fingernail morphology 2.803738317757009
Generalized myoclonic seizure 2.803738317757009
Aortic valve calcification 2.803738317757009
Mitral valve calcification 2.803738317757009
Feeding difficulties in infancy 2.803738317757009
Sudden cardiac death 2.803738317757009
Restrictive ventilatory defect 2.803738317757009
Back pain 2.803738317757009
Ovarian neoplasm 2.803738317757009
Hepatic failure 2.803738317757009
Lethargy 2.803738317757009
Leukopenia 2.803738317757009
Budd-Chiari syndrome 2.803738317757009
Sinusitis 2.803738317757009
Neutropenia 2.803738317757009
Postural instability 2.803738317757009
Barrett esophagus 2.803738317757009
Vascular dilatation 2.803738317757009
Specific learning disability 2.803738317757009
Hypercalciuria 2.803738317757009
Primary hyperparathyroidism 2.803738317757009
Parathyroid hyperplasia 2.803738317757009
Angiofibromas 2.803738317757009
Internal hemorrhage 2.803738317757009
Bruising susceptibility 2.803738317757009
Normocytic anemia 2.803738317757009
Hypotension 2.803738317757009
Petechiae 1.8691588785046727
Hypertrichosis 1.8691588785046727
Dolichocephaly 1.8691588785046727
Long philtrum 1.8691588785046727
Macrotia 1.8691588785046727
Wide nose 1.8691588785046727
Cutis marmorata 1.8691588785046727
Frontal bossing 1.8691588785046727
Delayed gross motor development 1.8691588785046727
Abnormal large intestine morphology 1.8691588785046727
Myopathy 1.8691588785046727
Hamartomatous polyposis 1.8691588785046727
Aortic aneurysm 1.8691588785046727
Capillary hemangioma 1.8691588785046727
Arteriovenous malformation 1.8691588785046727
Intestinal polyposis 1.8691588785046727
Oral ulcer 1.8691588785046727
Hemiparesis 1.8691588785046727
Mitral regurgitation 1.8691588785046727
Pleuritis 1.8691588785046727
Growth hormone excess 1.8691588785046727
Multiple lentigines 1.8691588785046727
Hirsutism 1.8691588785046727
Recurrent paroxysmal headache 1.8691588785046727
Hypertension associated with pheochromocytoma 1.8691588785046727
Increased circulating cortisol level 1.8691588785046727
Peripheral Schwannoma 1.8691588785046727
Fibroadenoma of the breast 1.8691588785046727
Pituitary growth hormone cell adenoma 1.8691588785046727
Increased urinary cortisol level 1.8691588785046727
Aphasia 1.8691588785046727
Language impairment 1.8691588785046727
Loss of consciousness 1.8691588785046727
Neurogenic bladder 1.8691588785046727
Capillary malformation 1.8691588785046727
Striae distensae 1.8691588785046727
Hypokalemia 1.8691588785046727
Panic attack 1.8691588785046727
Progressive visual loss 1.8691588785046727
Pyloric stenosis 1.8691588785046727
Vitreoretinopathy 1.8691588785046727
Lymphangioma 1.8691588785046727
Cardiac arrest 1.8691588785046727
Abnormal chorioretinal morphology 1.8691588785046727
Optic disc pallor 1.8691588785046727
Attenuation of retinal blood vessels 1.8691588785046727
Ocular hypertension 1.8691588785046727
Vitreous floaters 1.8691588785046727
Deeply set eye 1.8691588785046727
Abnormal electroretinogram 1.8691588785046727
Carious teeth 1.8691588785046727
Difficulty walking 1.8691588785046727
Reduced subcutaneous adipose tissue 1.8691588785046727
Abnormality of epiphysis morphology 1.8691588785046727
Right ventricular failure 1.8691588785046727
Exertional dyspnea 1.8691588785046727
Pulmonary edema 1.8691588785046727
Mediastinal lymphadenopathy 1.8691588785046727
Macroglossia 1.8691588785046727
Palmoplantar keratoderma 1.8691588785046727
Melanocytic nevus 1.8691588785046727
Brachydactyly 1.8691588785046727
Abnormal cerebellum morphology 1.8691588785046727
Cellular immunodeficiency 1.8691588785046727
Bone cyst 1.8691588785046727
Papilloma 1.8691588785046727
Horseshoe kidney 1.8691588785046727
Hydronephrosis 1.8691588785046727
Facial asymmetry 1.8691588785046727
Narrow nasal bridge 1.8691588785046727
Chorioretinal coloboma 1.8691588785046727
Ventricular septal defect 1.8691588785046727
Hypoplasia of the iris 1.8691588785046727
Reduced number of teeth 1.8691588785046727
Open bite 1.8691588785046727
Camptodactyly of finger 1.8691588785046727
Lower limb asymmetry 1.8691588785046727
Upper limb asymmetry 1.8691588785046727
Coarse metaphyseal trabecularization 1.8691588785046727
Recurrent hypoglycemia 1.8691588785046727
Neoplasm of the nervous system 1.8691588785046727
Prostate cancer 1.8691588785046727
Soft tissue neoplasm 1.8691588785046727
Pelvic mass 1.8691588785046727
Vaginal neoplasm 1.8691588785046727
Gingival overgrowth 1.8691588785046727
Hypertelorism 1.8691588785046727
Wide nasal bridge 1.8691588785046727
Delayed eruption of teeth 1.8691588785046727
Narrow chest 1.8691588785046727
Erysipelas 1.8691588785046727
Lymphopenia 1.8691588785046727
Increased number of teeth 1.8691588785046727
Venous malformation 1.8691588785046727
Neuroma 1.8691588785046727
Ventriculomegaly 1.8691588785046727
Abnormal eyelid morphology 1.8691588785046727
Eczema 1.8691588785046727
Edema 1.8691588785046727
Abnormal lymphocyte morphology 1.8691588785046727
Cutaneous T-cell lymphoma 1.8691588785046727
Intrauterine growth retardation 1.8691588785046727
Elevated serum creatinine 1.8691588785046727
Severely reduced visual acuity 1.8691588785046727
Joint laxity 1.8691588785046727
Metaphyseal widening 1.8691588785046727
Pancreatic adenocarcinoma 1.8691588785046727
Cervix cancer 1.8691588785046727
Neoplasm of the colon 1.8691588785046727
Nasal polyposis 1.8691588785046727
Neoplasm of the rectum 1.8691588785046727
Esophageal neoplasm 1.8691588785046727
Neoplasm of the small intestine 1.8691588785046727
Hypertensive retinopathy 1.8691588785046727
Cranial nerve compression 1.8691588785046727
Paraganglioma of head and neck 1.8691588785046727
Elevated urinary norepinephrine 1.8691588785046727
Elevated urinary epinephrine 1.8691588785046727
Retinal capillary hemangioma 1.8691588785046727
Vertebral compression fractures 1.8691588785046727
Ectropion 1.8691588785046727
Abnormal facial shape 1.8691588785046727
Lichenification 1.8691588785046727
Autistic behavior 1.8691588785046727
Corneal dystrophy 1.8691588785046727
Cerebral cortical atrophy 1.8691588785046727
Arnold-Chiari malformation 1.8691588785046727
Thick lower lip vermilion 1.8691588785046727
Coarse facial features 1.8691588785046727
Hypohidrosis 1.8691588785046727
Abnormal endocardium morphology 1.8691588785046727
Chronic pulmonary obstruction 1.8691588785046727
Increased megakaryocyte count 1.8691588785046727
Myelofibrosis 1.8691588785046727
Amaurosis fugax 1.8691588785046727
Gingival bleeding 1.8691588785046727
Joint dislocation 1.8691588785046727
Osteoarthritis 1.8691588785046727
Arthrogryposis multiplex congenita 1.8691588785046727
Hemiplegia/hemiparesis 1.8691588785046727
Ichthyosis 1.8691588785046727
Increased circulating antibody level 1.8691588785046727
Increased bone mineral density 1.8691588785046727
Elevated C-reactive protein level 1.8691588785046727
Paralysis 1.8691588785046727
Glioblastoma multiforme 1.8691588785046727
Precocious puberty 1.8691588785046727
Spinal cord tumor 1.8691588785046727
Brain neoplasm 1.8691588785046727
Metamorphopsia 1.8691588785046727
Abnormal thrombocyte morphology 1.8691588785046727
Elevated erythrocyte sedimentation rate 1.8691588785046727
Syncope 1.8691588785046727
Redundant skin 1.8691588785046727
Impotence 1.8691588785046727
Hemolytic anemia 1.8691588785046727
Deep venous thrombosis 1.8691588785046727
Mesenteric venous thrombosis 1.8691588785046727
Bronchiectasis 1.8691588785046727
Abnormality of the small intestine 1.8691588785046727
Recurrent bacterial infections 1.8691588785046727
Parotitis 1.8691588785046727
Bone marrow hypercellularity 1.8691588785046727
Atelectasis 1.8691588785046727
Verrucae 1.8691588785046727
Osteosarcoma 1.8691588785046727
Rhabdomyosarcoma 1.8691588785046727
Medulloblastoma 1.8691588785046727
Renal neoplasm 1.8691588785046727
Dystonia 1.8691588785046727
Scarring 1.8691588785046727
Pneumothorax 1.8691588785046727
Renal angiomyolipoma 1.8691588785046727
Retinal hamartoma 1.8691588785046727
Shagreen patch 1.8691588785046727
Pulmonary lymphangiomyomatosis 1.8691588785046727
Ungual fibroma 1.8691588785046727
Microscopic hematuria 1.8691588785046727
Hypoalbuminemia 1.8691588785046727
Stage 5 chronic kidney disease 1.8691588785046727
Decreased serum complement C3 1.8691588785046727
Prominent occiput 1.8691588785046727
Full cheeks 1.8691588785046727
Hyperextensible skin 1.8691588785046727
Bowing of the long bones 1.8691588785046727
Spontaneous hematomas 1.8691588785046727
Prostatitis 1.8691588785046727
Elevated urinary catecholamines 1.8691588785046727
Intellectual disability, mild 1.8691588785046727
Skeletal dysplasia 1.8691588785046727
Abnormality of retinal pigmentation 1.8691588785046727
Tinnitus 1.8691588785046727
Amblyopia 1.8691588785046727
Hyperpigmentation of the skin 1.8691588785046727
Remnants of the hyaloid vascular system 1.8691588785046727
Facial palsy 1.8691588785046727
Thin vermilion border 1.8691588785046727
Hypertonia 1.8691588785046727
Self-injurious behavior 1.8691588785046727
Short attention span 1.8691588785046727
Coma 1.8691588785046727
Zollinger-Ellison syndrome 1.8691588785046727
Confetti-like hypopigmented macules 1.8691588785046727
Elevated alkaline phosphatase 1.8691588785046727
Varicose veins 1.8691588785046727
Premature birth 1.8691588785046727
Hyperbilirubinemia 1.8691588785046727
Increased serum bile acid concentration 1.8691588785046727
Insomnia 1.8691588785046727
Portal vein thrombosis 1.8691588785046727
Pituitary adenoma 1.8691588785046727
Neoplasm of the adrenal gland 1.8691588785046727
Epidermoid cyst 1.8691588785046727
Normochromic anemia 1.8691588785046727
Dysplastic granulopoesis 1.8691588785046727
Chronic infection 1.8691588785046727
Nephrocalcinosis 1.8691588785046727
Angioid streaks of the fundus 1.8691588785046727
Flexion contracture 1.8691588785046727
Respiratory distress 1.8691588785046727
Microcytic anemia 1.8691588785046727
Hepatic steatosis 1.8691588785046727
Generalized hirsutism 1.8691588785046727
Cleft palate 1.8691588785046727
Uveitis 1.8691588785046727
Abnormal cardiac ventricular function 1.8691588785046727
Respiratory failure 1.8691588785046727
Aggressive behavior 1.8691588785046727
Generalized abnormality of skin 1.8691588785046727
Macrocytic anemia 1.8691588785046727
Malnutrition 1.8691588785046727
Hemangioma 1.8691588785046727
Single lineage myelodysplasia 1.8691588785046727
Polycythemia 1.8691588785046727
Tractional retinal detachment 1.8691588785046727
Macular edema 1.8691588785046727
Myocarditis 1.8691588785046727
Gastrointestinal dysmotility 1.8691588785046727
Cerebral amyloid angiopathy 0.9345794392523363
Death in early adulthood 0.9345794392523363
Facial hemangioma 0.9345794392523363
Esotropia 0.9345794392523363
Megakaryocytopenia 0.9345794392523363
Localized skin lesion 0.9345794392523363
Hypofibrinogenemia 0.9345794392523363
Hemangioma of the lip 0.9345794392523363
Narrow palate 0.9345794392523363
Hashimoto thyroiditis 0.9345794392523363
Subcutaneous hemorrhage 0.9345794392523363
Short nose 0.9345794392523363
Nevus 0.9345794392523363
Abdominal wall muscle weakness 0.9345794392523363
Broad thumb 0.9345794392523363
Neoplasm of the breast 0.9345794392523363
Neoplasm of the adrenal cortex 0.9345794392523363
Aortic regurgitation 0.9345794392523363
Encephalitis 0.9345794392523363
Abnormal pyramidal sign 0.9345794392523363
Recurrent aphthous stomatitis 0.9345794392523363
Immunologic hypersensitivity 0.9345794392523363
Endocarditis 0.9345794392523363
Myositis 0.9345794392523363
Retrobulbar optic neuritis 0.9345794392523363
Orchitis 0.9345794392523363
Peritonitis 0.9345794392523363
Thyroid adenoma 0.9345794392523363
Cafe-au-lait spot 0.9345794392523363
Pigmented micronodular adrenocortical disease 0.9345794392523363
Red hair 0.9345794392523363
Profuse pigmented skin lesions 0.9345794392523363
Pigmentation of the sclera 0.9345794392523363
Thyroid follicular hyperplasia 0.9345794392523363
Vestibular Schwannoma 0.9345794392523363
Abnormality of circulating adrenocorticotropin level 0.9345794392523363
Cardiac myxoma 0.9345794392523363
Hepatocellular adenoma 0.9345794392523363
Histiocytoma 0.9345794392523363
Osteochondroma 0.9345794392523363
Abnormal prolactin level 0.9345794392523363
Sertoli cell neoplasm 0.9345794392523363
Bronchogenic cyst 0.9345794392523363
Blue nevus 0.9345794392523363
Apathy 0.9345794392523363
Parkinsonism 0.9345794392523363
Migraine with aura 0.9345794392523363
Motor deterioration 0.9345794392523363
Leukoencephalopathy 0.9345794392523363
Recurrent subcortical infarcts 0.9345794392523363
Impaired visuospatial constructive cognition 0.9345794392523363
Stress urinary incontinence 0.9345794392523363
Brain atrophy 0.9345794392523363
Bradyphrenia 0.9345794392523363
Lacunar stroke 0.9345794392523363
Multifocal hyperintensity of cerebral white matter on MRI 0.9345794392523363
Facial capillary hemangioma 0.9345794392523363
High-output congestive heart failure 0.9345794392523363
Nonimmune hydrops fetalis 0.9345794392523363
Cerebral arteriovenous malformation 0.9345794392523363
Functional motor deficit 0.9345794392523363
Abnormality of the musculature of the limbs 0.9345794392523363
Hypopigmented macule 0.9345794392523363
Vein of Galen aneurysmal malformation 0.9345794392523363
Abnormality of the lymphatic system 0.9345794392523363
Abnormality of reproductive system physiology 0.9345794392523363
Hyperaldosteronism 0.9345794392523363
Abnormality of urine homeostasis 0.9345794392523363
Paradoxical increased cortisol secretion on dexamethasone suppression test 0.9345794392523363
Adrenocorticotropic hormone deficiency 0.9345794392523363
Increased serum estradiol 0.9345794392523363
Increased serum androstenedione 0.9345794392523363
Elevated serum 11-deoxycortisol 0.9345794392523363
Lung adenocarcinoma 0.9345794392523363
Abnormal serum dehydroepiandrosterone level 0.9345794392523363
Vesicoureteral reflux 0.9345794392523363
Macular degeneration 0.9345794392523363
Calvarial skull defect 0.9345794392523363
Abnormal hair morphology 0.9345794392523363
Dextrocardia 0.9345794392523363
Occipital encephalocele 0.9345794392523363
Midface retrusion 0.9345794392523363
Bifid ureter 0.9345794392523363
Scrotal hypoplasia 0.9345794392523363
Ambiguous genitalia 0.9345794392523363
Myoclonus 0.9345794392523363
Growth delay 0.9345794392523363
Hypoplasia of penis 0.9345794392523363
Sleep apnea 0.9345794392523363
Abnormal autonomic nervous system physiology 0.9345794392523363
Blurred vision 0.9345794392523363
Cystoid macular edema 0.9345794392523363
Choroidal neovascularization 0.9345794392523363
Macular hole 0.9345794392523363
Vitritis 0.9345794392523363
Retinal thinning 0.9345794392523363
Arcuate scotoma 0.9345794392523363
Photoreceptor layer loss on macular OCT 0.9345794392523363
Blind-spot enlargment 0.9345794392523363
Macular scar 0.9345794392523363
Abnormal anterior chamber morphology 0.9345794392523363
Aplasia/Hypoplasia of the iris 0.9345794392523363
Urinary incontinence 0.9345794392523363
Renal hypoplasia 0.9345794392523363
Unilateral renal agenesis 0.9345794392523363
Progressive microcephaly 0.9345794392523363
Progressive sensorineural hearing impairment 0.9345794392523363
Convex nasal ridge 0.9345794392523363
Developmental cataract 0.9345794392523363
Alacrima 0.9345794392523363
Hypermetropia 0.9345794392523363
Retinal dystrophy 0.9345794392523363
Pigmentary retinopathy 0.9345794392523363
Band keratopathy 0.9345794392523363
Miosis 0.9345794392523363
Delayed eruption of primary teeth 0.9345794392523363
Dental malocclusion 0.9345794392523363
Decreased nerve conduction velocity 0.9345794392523363
Anhidrosis 0.9345794392523363
Cutaneous photosensitivity 0.9345794392523363
Retinal atrophy 0.9345794392523363
Mental deterioration 0.9345794392523363
Cerebellar atrophy 0.9345794392523363
Areflexia 0.9345794392523363
Absent speech 0.9345794392523363
Weak cry 0.9345794392523363
High-frequency sensorineural hearing impairment 0.9345794392523363
Cerebral atrophy 0.9345794392523363
Intention tremor 0.9345794392523363
Basal ganglia calcification 0.9345794392523363
Hyperuricemia 0.9345794392523363
Gliosis 0.9345794392523363
Fine hair 0.9345794392523363
Dense calcifications in the cerebellar dentate nucleus 0.9345794392523363
Limb hypertonia 0.9345794392523363
Inability to walk 0.9345794392523363
Patchy demyelination of subcortical white matter 0.9345794392523363
Thickened calvaria 0.9345794392523363
Congenital contracture 0.9345794392523363
Peripheral axonal neuropathy 0.9345794392523363
Severe short stature 0.9345794392523363
Vascular calcification 0.9345794392523363
Contractures of the large joints 0.9345794392523363
Hypoplasia of dental enamel 0.9345794392523363
Agenesis of permanent teeth 0.9345794392523363
Demyelinating peripheral neuropathy 0.9345794392523363
Sensorimotor neuropathy 0.9345794392523363
Progressive gait ataxia 0.9345794392523363
Cerebral dysmyelination 0.9345794392523363
Subcortical white matter calcifications 0.9345794392523363
Retinal arteriolar constriction 0.9345794392523363
Absence of pubertal development 0.9345794392523363
Postnatal growth retardation 0.9345794392523363
Muscular hypotonia of the trunk 0.9345794392523363
Dry hair 0.9345794392523363
Congenital microcephaly 0.9345794392523363
Gastrostomy tube feeding in infancy 0.9345794392523363
Lentiglobus 0.9345794392523363
Corneal ulceration 0.9345794392523363
Malar rash 0.9345794392523363
Stooped posture 0.9345794392523363
Premature skin wrinkling 0.9345794392523363
Cyanosis 0.9345794392523363
Elevated pulmonary artery pressure 0.9345794392523363
Pulmonary capillary hemangiomatosis 0.9345794392523363
Hemothorax 0.9345794392523363
Hypoxemia 0.9345794392523363
Centrilobular ground-glass opacification on pulmonary HRCT 0.9345794392523363
Diffuse alveolar hemorrhage 0.9345794392523363
Interlobular septal thickening on pulmonary HRCT 0.9345794392523363
Abnormal pulmonary vein morphology 0.9345794392523363
Decreased DLCO 0.9345794392523363
Clubbing of fingers 0.9345794392523363
Abnormal penis morphology 0.9345794392523363
Furrowed tongue 0.9345794392523363
Gynecomastia 0.9345794392523363
Generalized hyperkeratosis 0.9345794392523363
Follicular thyroid carcinoma 0.9345794392523363
Adenoma sebaceum 0.9345794392523363
Endometrial carcinoma 0.9345794392523363
Mucosal telangiectasiae 0.9345794392523363
Conjunctival hamartoma 0.9345794392523363
Multicystic kidney dysplasia 0.9345794392523363
Pointed chin 0.9345794392523363
Abnormality of the middle ear 0.9345794392523363
Abnormality of dental enamel 0.9345794392523363
Short ribs 0.9345794392523363
Congenital diaphragmatic hernia 0.9345794392523363
Short clavicles 0.9345794392523363
Thin skin 0.9345794392523363
Abnormal palmar dermatoglyphics 0.9345794392523363
Split hand 0.9345794392523363
Omphalocele 0.9345794392523363
Diastasis recti 0.9345794392523363
Toe syndactyly 0.9345794392523363
Split foot 0.9345794392523363
Duodenal atresia 0.9345794392523363
Spina bifida 0.9345794392523363
Dermal atrophy 0.9345794392523363
Abnormality of the pulmonary vasculature 0.9345794392523363
Aplasia/Hypoplasia of the lungs 0.9345794392523363
Renal hypoplasia/aplasia 0.9345794392523363
Hypoplastic pelvis 0.9345794392523363
Abnormal adipose tissue morphology 0.9345794392523363
Giant cell tumor of bone 0.9345794392523363
Urinary retention 0.9345794392523363
Abnormality of the forehead 0.9345794392523363
Abnormality of the peritoneum 0.9345794392523363
Low back pain 0.9345794392523363
Hypophosphatemic rickets 0.9345794392523363
Night sweats 0.9345794392523363
Reduced C-peptide level 0.9345794392523363
Hypoinsulinemia 0.9345794392523363
Neoplasia of the pleura 0.9345794392523363
Microangiopathic hemolytic anemia 0.9345794392523363
Decreased serum complement factor I 0.9345794392523363
Decreased serum complement factor B 0.9345794392523363
Decreased level of thrombomodulin 0.9345794392523363
Abnormal lactate dehydrogenase level 0.9345794392523363
Ectopic kidney 0.9345794392523363
Retrognathia 0.9345794392523363
Short philtrum 0.9345794392523363
Broad forehead 0.9345794392523363
Pachygyria 0.9345794392523363
Craniosynostosis 0.9345794392523363
Mild postnatal growth retardation 0.9345794392523363
Abnormal foot morphology 0.9345794392523363
Sparse axillary hair 0.9345794392523363
Hypocalcemia 0.9345794392523363
Pulmonary lymphangiectasia 0.9345794392523363
External ear malformation 0.9345794392523363
Flat face 0.9345794392523363
Benign neoplasm of the central nervous system 0.9345794392523363
Episodic vomiting 0.9345794392523363
Choroidal hemangioma 0.9345794392523363
Vascular skin abnormality 0.9345794392523363
Retinal cavernous angioma 0.9345794392523363
Focal T2 hyperintense brainstem lesion 0.9345794392523363
Focal T2 hypointense brainstem lesion 0.9345794392523363
Spinal cord lesion 0.9345794392523363
Hand oligodactyly 0.9345794392523363
Tricuspid valve prolapse 0.9345794392523363
Macrodactyly 0.9345794392523363
Hyperpigmented nevi 0.9345794392523363
Hemihypertrophy of lower limb 0.9345794392523363
Hemihypertrophy of upper limb 0.9345794392523363
Large face 0.9345794392523363
Poikiloderma 0.9345794392523363
Abnormality of bone marrow cell morphology 0.9345794392523363
Polycystic ovaries 0.9345794392523363
Elevated systolic blood pressure 0.9345794392523363
Elevated diastolic blood pressure 0.9345794392523363
Helicobacter pylori infection 0.9345794392523363
Abnormality of the hepatic vasculature 0.9345794392523363
Increased body mass index 0.9345794392523363
Type I diabetes mellitus 0.9345794392523363
Abnormal placenta morphology 0.9345794392523363
Preauricular skin tag 0.9345794392523363
Delayed speech and language development 0.9345794392523363
Waddling gait 0.9345794392523363
Abnormal femoral neck/head morphology 0.9345794392523363
Crumpled long bones 0.9345794392523363
Congenital nystagmus 0.9345794392523363
Loss of ability to walk 0.9345794392523363
Congenital blindness 0.9345794392523363
Exudative retinopathy 0.9345794392523363
Isosexual precocious puberty 0.9345794392523363
Infantile muscular hypotonia 0.9345794392523363
Low serum calcitriol 0.9345794392523363
Angle closure glaucoma 0.9345794392523363
Exudative vitreoretinopathy 0.9345794392523363
Moderately reduced visual acuity 0.9345794392523363
Visual acuity light perception with projection 0.9345794392523363
Abnormality of cardiovascular system morphology 0.9345794392523363
Abnormality of the ureter 0.9345794392523363
Rectal prolapse 0.9345794392523363
Gastrointestinal carcinoma 0.9345794392523363
Abnormality of the gallbladder 0.9345794392523363
Neoplasm of the nose 0.9345794392523363
Biliary tract neoplasm 0.9345794392523363
Melanonychia 0.9345794392523363
Abnormal pigmentation of the oral mucosa 0.9345794392523363
Glomerular sclerosis 0.9345794392523363
Aniridia 0.9345794392523363
Episodic paroxysmal anxiety 0.9345794392523363
Episodic hyperhidrosis 0.9345794392523363
Vocal cord paralysis 0.9345794392523363
Dysphonia 0.9345794392523363
Positive regitine blocking test 0.9345794392523363
Extraadrenal pheochromocytoma 0.9345794392523363
Pulsatile tinnitus 0.9345794392523363
Paroxysmal vertigo 0.9345794392523363
Sinus tachycardia 0.9345794392523363
Elevated urinary dopamine 0.9345794392523363
Arachnoid hemangiomatosis 0.9345794392523363
Flushing 0.9345794392523363
Abnormality of the bladder 0.9345794392523363
Hyperproteinemia 0.9345794392523363
Spinal cord compression 0.9345794392523363
Increased circulating IgG level 0.9345794392523363
Increased circulating IgA level 0.9345794392523363
Abnormality of vitamin B12 metabolism 0.9345794392523363
Functional abnormality of the gastrointestinal tract 0.9345794392523363
Fibrosarcoma 0.9345794392523363
Erythroderma 0.9345794392523363
Nail dystrophy 0.9345794392523363
Abnormal immunoglobulin level 0.9345794392523363
Abnormal choroid morphology 0.9345794392523363
Hemianopia 0.9345794392523363
Hyperostosis 0.9345794392523363
Abnormal renal tubule morphology 0.9345794392523363
Angiokeratoma 0.9345794392523363
Hypertrophic cardiomyopathy 0.9345794392523363
Abnormal aortic valve morphology 0.9345794392523363
Atrioventricular block 0.9345794392523363
Left ventricular hypertrophy 0.9345794392523363
Achalasia 0.9345794392523363
Abnormality of femur morphology 0.9345794392523363
Hyperlipidemia 0.9345794392523363
Bundle branch block 0.9345794392523363
Abnormal platelet morphology 0.9345794392523363
Limitation of joint mobility 0.9345794392523363
Hallux valgus 0.9345794392523363
Spinal rigidity 0.9345794392523363
Abnormal vertebral morphology 0.9345794392523363
Clinodactyly of the 5th finger 0.9345794392523363
Abnormality of the first metatarsal bone 0.9345794392523363
Aplasia/Hypoplasia of the phalanges of the hallux 0.9345794392523363
Short hallux 0.9345794392523363
Ectopic ossification in muscle tissue 0.9345794392523363
Ectopic ossification in ligament tissue 0.9345794392523363
Synostosis of joints 0.9345794392523363
Hypoparathyroidism 0.9345794392523363
Chronic mucocutaneous candidiasis 0.9345794392523363
Decreased circulating aldosterone level 0.9345794392523363
Opacification of the corneal stroma 0.9345794392523363
Adrenal hyperplasia 0.9345794392523363
Abnormal calcium-phosphate regulating hormone level 0.9345794392523363
Oculomotor apraxia 0.9345794392523363
Abnormal pericardium morphology 0.9345794392523363
Bilateral tonic-clonic seizure 0.9345794392523363
Abnormality of extrapyramidal motor function 0.9345794392523363
Cherry red spot of the macula 0.9345794392523363
Hepatitis 0.9345794392523363
Abnormal corpus callosum morphology 0.9345794392523363
Cerebral edema 0.9345794392523363
Abnormal cell morphology 0.9345794392523363
Conjunctivitis 0.9345794392523363
Entropion 0.9345794392523363
Abnormality of the urethra 0.9345794392523363
Abnormality of neutrophils 0.9345794392523363
Hypokalemic metabolic alkalosis 0.9345794392523363
Esophageal stricture 0.9345794392523363
Excessive salivation 0.9345794392523363
Dyspareunia 0.9345794392523363
Dysuria 0.9345794392523363
Acantholysis 0.9345794392523363
Corneal erosion 0.9345794392523363
Torticollis 0.9345794392523363
Abnormal scalp morphology 0.9345794392523363
Elevated alpha-fetoprotein 0.9345794392523363
Lower limb muscle weakness 0.9345794392523363
Abnormality of the superior cerebellar peduncle 0.9345794392523363
Upper limb pain 0.9345794392523363
Peripheral primitive neuroectodermal neoplasm 0.9345794392523363
Elevated carcinoma antigen 125 level 0.9345794392523363
Metrorrhagia 0.9345794392523363
Abnormal thoracic spine morphology 0.9345794392523363
Neoplasm of the scrotum 0.9345794392523363
Abnormality of refraction 0.9345794392523363
Inferior lens subluxation 0.9345794392523363
Zonular cataract 0.9345794392523363
Mydriasis 0.9345794392523363
Iris melanoma 0.9345794392523363
Choroidal melanoma 0.9345794392523363
Ciliary body melanoma 0.9345794392523363
Photopsia 0.9345794392523363
Abnormal visual accommodation 0.9345794392523363
Ocular pain 0.9345794392523363
Glossitis 0.9345794392523363
Ptosis 0.9345794392523363
Ophthalmoparesis 0.9345794392523363
Visual field defect 0.9345794392523363
Aortic dissection 0.9345794392523363
Abdominal aortic aneurysm 0.9345794392523363
Impaired mastication 0.9345794392523363
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis 0.9345794392523363
Recurrent pharyngitis 0.9345794392523363
Right ventricular dilatation 0.9345794392523363
Tricuspid regurgitation 0.9345794392523363
Heart murmur 0.9345794392523363
Elevated jugular venous pressure 0.9345794392523363
Rod-cone dystrophy 0.9345794392523363
Nyctalopia 0.9345794392523363
Increased number of skin folds 0.9345794392523363
Absent retinal pigment epithelium 0.9345794392523363
Thromboembolism 0.9345794392523363
Reticulocytosis 0.9345794392523363
Renal Fanconi syndrome 0.9345794392523363
Glycosuria 0.9345794392523363
Increased blood urea nitrogen 0.9345794392523363
Hemoglobinuria 0.9345794392523363
Unconjugated hyperbilirubinemia 0.9345794392523363
Erythroid hyperplasia 0.9345794392523363
Hemosiderinuria 0.9345794392523363
Reduced haptoglobin level 0.9345794392523363
Esophageal spasms 0.9345794392523363
Asthenia 0.9345794392523363
Abnormal erythrocyte enzyme level 0.9345794392523363
Odynophagia 0.9345794392523363
Conjunctival icterus 0.9345794392523363
Decreased serum iron 0.9345794392523363
Abnormality of the liver 0.9345794392523363
Neoplasm of the stomach 0.9345794392523363
Gastrointestinal stroma tumor 0.9345794392523363
Severe periodontitis 0.9345794392523363
Otitis media 0.9345794392523363
Vitiligo 0.9345794392523363
Tetralogy of Fallot 0.9345794392523363
Limb ataxia 0.9345794392523363
Recurrent upper respiratory tract infections 0.9345794392523363
Lymphadenitis 0.9345794392523363
Recurrent pneumonia 0.9345794392523363
Poor fine motor coordination 0.9345794392523363
Abnormality of neutrophil morphology 0.9345794392523363
Cutaneous melanoma 0.9345794392523363
Pharyngitis 0.9345794392523363
Myelokathexis 0.9345794392523363
Abnormal basophil morphology 0.9345794392523363
Myeloproliferative disorder 0.9345794392523363
Uterine leiomyoma 0.9345794392523363
Uterine leiomyosarcoma 0.9345794392523363
Abnormality of the musculature 0.9345794392523363
Papillary renal cell carcinoma type 2 0.9345794392523363
Multiple cutaneous leiomyomas 0.9345794392523363
Cutaneous leiomyoma 0.9345794392523363
Acute lymphoblastic leukemia 0.9345794392523363
Testicular neoplasm 0.9345794392523363
Hodgkin lymphoma 0.9345794392523363
Neoplasm of head and neck 0.9345794392523363
Non-Hodgkin lymphoma 0.9345794392523363
Central primitive neuroectodermal tumor 0.9345794392523363
Choroid plexus carcinoma 0.9345794392523363
Neoplasm of the larynx 0.9345794392523363
Choriocarcinoma 0.9345794392523363
Abnormality of the gingiva 0.9345794392523363
Microglossia 0.9345794392523363
Tongue nodules 0.9345794392523363
Hoarse voice 0.9345794392523363
Alopecia of scalp 0.9345794392523363
Pustule 0.9345794392523363
Abnormal morphology of female internal genitalia 0.9345794392523363
Chylopericardium 0.9345794392523363
Abnormal urinary color 0.9345794392523363
Abnormal thrombosis 0.9345794392523363
Glomerular subendothelial electron-dense deposits 0.9345794392523363
Drusen 0.9345794392523363
C3 nephritic factor positivity 0.9345794392523363
Bladder diverticulum 0.9345794392523363
Abnormal palate morphology 0.9345794392523363
Mask-like facies 0.9345794392523363
Chondrocalcinosis 0.9345794392523363
Abnormality of the metaphysis 0.9345794392523363
Atypical scarring of skin 0.9345794392523363
Chorea 0.9345794392523363
Woolly hair 0.9345794392523363
Abnormal carotid artery morphology 0.9345794392523363
Hypopigmentation of hair 0.9345794392523363
Prolonged neonatal jaundice 0.9345794392523363
Sparse hair 0.9345794392523363
Tarsal synostosis 0.9345794392523363
Aplasia/Hypoplasia of the abdominal wall musculature 0.9345794392523363
Exostoses 0.9345794392523363
Abnormality of the nose 0.9345794392523363
Coronary artery calcification 0.9345794392523363
Aminoaciduria 0.9345794392523363
Thickened Achilles tendon 0.9345794392523363
Intervertebral disk calcification 0.9345794392523363
Tendon rupture 0.9345794392523363
Calcification of cartilage 0.9345794392523363
Cartilage destruction 0.9345794392523363
Freckling 0.9345794392523363
Abnormality of the respiratory system 0.9345794392523363
Genu valgum 0.9345794392523363
Genu varum 0.9345794392523363
Slender long bone 0.9345794392523363
Abnormality of the hip bone 0.9345794392523363
Chronic myelogenous leukemia 0.9345794392523363
Neoplasm of the gastrointestinal tract 0.9345794392523363
Generalized hyperpigmentation 0.9345794392523363
Plexiform neurofibroma 0.9345794392523363
Spinal neurofibromas 0.9345794392523363
Lisch nodules 0.9345794392523363
Urinary tract neoplasm 0.9345794392523363
Abnormality of the upper urinary tract 0.9345794392523363
Abnormal hair quantity 0.9345794392523363
Polyneuropathy 0.9345794392523363
Myelopathy 0.9345794392523363
Unsteady gait 0.9345794392523363
Brain stem compression 0.9345794392523363
Posterior subcapsular cataract 0.9345794392523363
Foot dorsiflexor weakness 0.9345794392523363
Bilateral vestibular Schwannoma 0.9345794392523363
Mononeuropathy 0.9345794392523363
Wrist drop 0.9345794392523363
Intracranial meningioma 0.9345794392523363
Spinal meningioma 0.9345794392523363
Cortical cataract 0.9345794392523363
Hyperesthesia 0.9345794392523363
Increased circulating gonadotropin level 0.9345794392523363
Generalized edema 0.9345794392523363
Hypovolemia 0.9345794392523363
Peripheral edema 0.9345794392523363
Hemorrhagic ovarian cyst 0.9345794392523363
Capillary leak 0.9345794392523363
Increased serum testosterone level 0.9345794392523363
Malar flattening 0.9345794392523363
Abnormal cochlea morphology 0.9345794392523363
Protruding ear 0.9345794392523363
Hypotelorism 0.9345794392523363
Abnormal pupil morphology 0.9345794392523363
Sclerocornea 0.9345794392523363
Psychosis 0.9345794392523363
Stereotypy 0.9345794392523363
Hallucinations 0.9345794392523363
Clonus 0.9345794392523363
EEG abnormality 0.9345794392523363
Intellectual disability, progressive 0.9345794392523363
Aplasia/Hypoplasia of the cerebellum 0.9345794392523363
Anterior chamber synechiae 0.9345794392523363
Aplasia/Hypoplasia of the lens 0.9345794392523363
Abnormality of the diencephalon 0.9345794392523363
Abnormality of immune system physiology 0.9345794392523363
Abnormality of the helix 0.9345794392523363
Neoplasm of the eye 0.9345794392523363
Erectile dysfunction 0.9345794392523363
Uterine rupture 0.9345794392523363
Vascular neoplasm 0.9345794392523363
Polymicrogyria 0.9345794392523363
Enlarged cerebellum 0.9345794392523363
Trichilemmoma 0.9345794392523363
Neoplasm of the thyroid gland 0.9345794392523363
Acrokeratosis 0.9345794392523363
Amenorrhea 0.9345794392523363
Gingival fibromatosis 0.9345794392523363
Adrenocortical abnormality 0.9345794392523363
Primary hypercortisolism 0.9345794392523363
Dehydration 0.9345794392523363
Hematemesis 0.9345794392523363
Melena 0.9345794392523363
Duodenal ulcer 0.9345794392523363
Increased serum serotonin 0.9345794392523363
Peptic ulcer 0.9345794392523363
Large cafe-au-lait macules with irregular margins 0.9345794392523363
Intestinal carcinoid 0.9345794392523363
Parathyroid carcinoma 0.9345794392523363
Pituitary corticotropic cell adenoma 0.9345794392523363
Atypical absence status epilepticus 0.9345794392523363
Proportionate tall stature 0.9345794392523363
Pituitary gonadotropic cell adenoma 0.9345794392523363
Pituitary null cell adenoma 0.9345794392523363
Pituitary thyrotropic cell adenoma 0.9345794392523363
Insulinoma 0.9345794392523363
Shortened QT interval 0.9345794392523363
Glucagonoma 0.9345794392523363
Pulmonary carcinoid tumor 0.9345794392523363
Impairment of activities of daily living 0.9345794392523363
Decreased vigilance 0.9345794392523363
Abnormal circulating aldosterone 0.9345794392523363
Decreased male libido 0.9345794392523363
Thymoma 0.9345794392523363
Galactorrhea 0.9345794392523363
Hypergastrinemia 0.9345794392523363
Disproportionate tall stature 0.9345794392523363
Aganglionic megacolon 0.9345794392523363
Kyphoscoliosis 0.9345794392523363
Medullary thyroid carcinoma 0.9345794392523363
Elevated circulating parathyroid hormone level 0.9345794392523363
Hyperlordosis 0.9345794392523363
Proximal amyotrophy 0.9345794392523363
Neoplasm of the skeletal system 0.9345794392523363
Prominent corneal nerve fibers 0.9345794392523363
Thyroid C cell hyperplasia 0.9345794392523363
Elevated urinary vanillylmandelic acid 0.9345794392523363
Thick vermilion border 0.9345794392523363
Ganglioneuromatosis 0.9345794392523363
Cervical lymphadenopathy 0.9345794392523363
Thyroid nodule 0.9345794392523363
Abnormal tongue morphology 0.9345794392523363
Neck pain 0.9345794392523363
Multiple mucosal neuromas 0.9345794392523363
Cervical neoplasm 0.9345794392523363
Cutaneous lichen amyloidosis 0.9345794392523363
Hypertensive crisis 0.9345794392523363
Abnormality of the femoral metaphysis 0.9345794392523363
Abnormality of the tibial metaphysis 0.9345794392523363
Oculomotor nerve palsy 0.9345794392523363
Neoplasm of the central nervous system 0.9345794392523363
Cerebral palsy 0.9345794392523363
Abnormality of the kidney 0.9345794392523363
Abnormality of the pancreas 0.9345794392523363
Neonatal respiratory distress 0.9345794392523363
Asterixis 0.9345794392523363
Meconium stained amniotic fluid 0.9345794392523363
Abnormal pineal melatonin secretion 0.9345794392523363
Abnormal serum interleukin level 0.9345794392523363
Pruritus on foot 0.9345794392523363
Palmar pruritus 0.9345794392523363
Preeclampsia 0.9345794392523363
Abnormality of the neck 0.9345794392523363
Obesity 0.9345794392523363
Abnormal intestine morphology 0.9345794392523363
Recurrent singultus 0.9345794392523363
Intermittent claudication 0.9345794392523363
Unerupted tooth 0.9345794392523363
Hepatoblastoma 0.9345794392523363
Papillary thyroid carcinoma 0.9345794392523363
Multiple gastric polyps 0.9345794392523363
Duodenal polyposis 0.9345794392523363
Adenomatous colonic polyposis 0.9345794392523363
Biliary tract obstruction 0.9345794392523363
Duodenal adenocarcinoma 0.9345794392523363
Congenital hypertrophy of retinal pigment epithelium 0.9345794392523363
Odontoma 0.9345794392523363
Cholangiocarcinoma 0.9345794392523363
Desmoid tumors 0.9345794392523363
Osteoma 0.9345794392523363
Neoplasm of the gallbladder 0.9345794392523363
Thyroiditis 0.9345794392523363
Abnormality of the cementum 0.9345794392523363
Granulocytopenia 0.9345794392523363
Hypochromic anemia 0.9345794392523363
Refractory anemia with ringed sideroblasts 0.9345794392523363
Hyposegmentation of neutrophil nuclei 0.9345794392523363
Abnormal number of granulocyte precursors 0.9345794392523363
Megaloblastic erythroid hyperplasia 0.9345794392523363
Thickened nuchal skin fold 0.9345794392523363
Abnormal thorax morphology 0.9345794392523363
Mitral valve prolapse 0.9345794392523363
Restrictive cardiomyopathy 0.9345794392523363
Excessive wrinkled skin 0.9345794392523363
Abnormal pattern of respiration 0.9345794392523363
Abnormal pulmonary Interstitial morphology 0.9345794392523363
Cholelithiasis 0.9345794392523363
Subarachnoid hemorrhage 0.9345794392523363
Retinal telangiectasia 0.9345794392523363
Insulin resistance 0.9345794392523363
Progeroid facial appearance 0.9345794392523363
Lipoatrophy 0.9345794392523363
Lymphocytosis 0.9345794392523363
Leukocoria 0.9345794392523363
Leukemia 0.9345794392523363
Reduced visual acuity 0.9345794392523363
Retinal calcification 0.9345794392523363
Glioma 0.9345794392523363
Retinoblastoma 0.9345794392523363
Hyphema 0.9345794392523363
Ewing sarcoma 0.9345794392523363
Subretinal pigment epithelium hemorrhage 0.9345794392523363
Red eye 0.9345794392523363
Pineoblastoma 0.9345794392523363
Hypopyon 0.9345794392523363
Leiomyosarcoma 0.9345794392523363
Hydrocele testis 0.9345794392523363
Ankle swelling 0.9345794392523363
Predominantly lower limb lymphedema 0.9345794392523363
Toenail dysplasia 0.9345794392523363
Angiosarcoma 0.9345794392523363
Abnormal nasal mucosa morphology 0.9345794392523363
Dacryocystitis 0.9345794392523363
Abnormality of the adrenal glands 0.9345794392523363
Hyperthyroidism 0.9345794392523363
Hypopigmentation of the skin 0.9345794392523363
Eosinophilia 0.9345794392523363
Tubulointerstitial nephritis 0.9345794392523363
Upper airway obstruction 0.9345794392523363
Increased CSF protein 0.9345794392523363
Proximal muscle weakness 0.9345794392523363
Ventricular tachycardia 0.9345794392523363
Enlarged lacrimal glands 0.9345794392523363
Abnormality of the gastrointestinal tract 0.9345794392523363
Enlargement of parotid gland 0.9345794392523363
Erythema nodosum 0.9345794392523363
Abnormal reproductive system morphology 0.9345794392523363
Heart block 0.9345794392523363
Abnormal liver parenchyma morphology 0.9345794392523363
Maculopapular exanthema 0.9345794392523363
Increased T cell count 0.9345794392523363
Xerostomia 0.9345794392523363
Agitation 0.9345794392523363
Neurodegeneration 0.9345794392523363
Muscle spasm 0.9345794392523363
Amyotrophic lateral sclerosis 0.9345794392523363
Laryngospasm 0.9345794392523363
Fatigable weakness of swallowing muscles 0.9345794392523363
Fatigable weakness of respiratory muscles 0.9345794392523363
Polycystic kidney dysplasia 0.9345794392523363
Hepatic cysts 0.9345794392523363
Status epilepticus 0.9345794392523363
Poor speech 0.9345794392523363
Cortical dysplasia 0.9345794392523363
Focal-onset seizure 0.9345794392523363
Repetitive compulsive behavior 0.9345794392523363
Subependymal nodules 0.9345794392523363
Cortical tubers 0.9345794392523363
Subependymal giant-cell astrocytoma 0.9345794392523363
Hypomelanotic macule 0.9345794392523363
Cardiac rhabdomyoma 0.9345794392523363
Noncommunicating hydrocephalus 0.9345794392523363
Respiratory tract infection 0.9345794392523363
Abnormal social behavior 0.9345794392523363
Infantile spasms 0.9345794392523363
Neurodevelopmental delay 0.9345794392523363
Retinal astrocytic hamartoma 0.9345794392523363
Pancreatic endocrine tumor 0.9345794392523363
Chorioretinal hypopigmentation 0.9345794392523363
Carcinoid tumor 0.9345794392523363
Impulsivity 0.9345794392523363
Abnormality of the outer ear 0.9345794392523363
Decreased response to growth hormone stimuation test 0.9345794392523363
Deformed rib cage 0.9345794392523363
Abnormality of finger 0.9345794392523363
Abnormal joint morphology 0.9345794392523363
Exocrine pancreatic insufficiency 0.9345794392523363
Aplastic anemia 0.9345794392523363
Pneumonia 0.9345794392523363
Steatorrhea 0.9345794392523363
Pancreatic hypoplasia 0.9345794392523363
Metaphyseal irregularity 0.9345794392523363
Recurrent viral infections 0.9345794392523363
Low levels of vitamin A 0.9345794392523363
Increased mean corpuscular volume 0.9345794392523363
Metaphyseal chondrodysplasia 0.9345794392523363
Proximal femoral epiphysiolysis 0.9345794392523363
Low levels of vitamin K 0.9345794392523363
Impaired neutrophil chemotaxis 0.9345794392523363
Abnormality of the thoracic cavity 0.9345794392523363
Low levels of vitamin D 0.9345794392523363
Low levels of vitamin E 0.9345794392523363
Chronic neutropenia 0.9345794392523363
Transient neutropenia 0.9345794392523363
Hypoamylasemia 0.9345794392523363
Hepatosplenomegaly 0.9345794392523363
Extramedullary hematopoiesis 0.9345794392523363
Easy fatigability 0.9345794392523363
Hematological neoplasm 0.9345794392523363
Poikilocytosis 0.9345794392523363
Low-grade fever 0.9345794392523363
Abnormal megakaryocyte morphology 0.9345794392523363
Flank pain 0.9345794392523363
Ecchymosis 0.9345794392523363
Reduced antithrombin III activity 0.9345794392523363
Superficial thrombophlebitis 0.9345794392523363
Recurrent thromboembolism 0.9345794392523363
Cerebral venous thrombosis 0.9345794392523363
Retinal vein occlusion 0.9345794392523363
Hepatic vein thrombosis 0.9345794392523363
Pregnancy exposure 0.9345794392523363
Reduced antithrombin antigen 0.9345794392523363
Recurrent spontaneous abortion 0.9345794392523363
Gastrointestinal arteriovenous malformation 0.9345794392523363
Abnormal trachea morphology 0.9345794392523363
Abnormality of the lower limb 0.9345794392523363
Abnormality of the upper limb 0.9345794392523363
Abnormality of the nasal cavity 0.9345794392523363
Abnormal digit morphology 0.9345794392523363
Abnormal renal morphology 0.9345794392523363
Oral mucosa nodule 0.9345794392523363
Skin nodule 0.9345794392523363
Low-set, posteriorly rotated ears 0.9345794392523363
Fetal akinesia sequence 0.9345794392523363
Neonatal death 0.9345794392523363
Stillbirth 0.9345794392523363
Congenital nonbullous ichthyosiform erythroderma 0.9345794392523363
Enlarged kidney 0.9345794392523363
Adrenal insufficiency 0.9345794392523363
Cholestasis 0.9345794392523363
Renal amyloidosis 0.9345794392523363
Chronic diarrhea 0.9345794392523363
Abnormal oral mucosa morphology 0.9345794392523363
Anemic pallor 0.9345794392523363
Anemia of inadequate production 0.9345794392523363
Abnormal circulating albumin concentration 0.9345794392523363
Multiple lineage myelodysplasia 0.9345794392523363
Abnormal mean corpuscular volume 0.9345794392523363
Abnormal rectum morphology 0.9345794392523363
Hepatic encephalopathy 0.9345794392523363
Hepatic necrosis 0.9345794392523363
Neoplasm 0.9345794392523363
Hyponatremia 0.9345794392523363
Type II diabetes mellitus 0.9345794392523363
Anasarca 0.9345794392523363
Liver abscess 0.9345794392523363
Hemobilia 0.9345794392523363
Metabolic alkalosis 0.9345794392523363
Epigastric pain 0.9345794392523363
Chorioretinal atrophy 0.9345794392523363
Motor delay 0.9345794392523363
Falciform retinal fold 0.9345794392523363
Peripheral retinal avascularization 0.9345794392523363
Mild global developmental delay 0.9345794392523363
Rhegmatogenous retinal detachment 0.9345794392523363
Abnormality of the optic disc 0.9345794392523363
Macular exudate 0.9345794392523363
Macular telangiectasia 0.9345794392523363
Retinal neovascularization 0.9345794392523363
Subretinal fluid 0.9345794392523363
Papilledema 0.9345794392523363
Cardiomyopathy 0.9345794392523363
Pancreatic cysts 0.9345794392523363
Paraganglioma 0.9345794392523363
Elevated circulating catecholamine level 0.9345794392523363
Upper limb muscle weakness 0.9345794392523363
Abnormal left ventricular function 0.9345794392523363
Cerebellar hemangioblastoma 0.9345794392523363
Pancreatic islet cell adenoma 0.9345794392523363
Distal lower limb muscle weakness 0.9345794392523363
Papillary cystadenoma of the epididymis 0.9345794392523363
Limb pain 0.9345794392523363
Endolymphatic sac tumor 0.9345794392523363
Epididymal cyst 0.9345794392523363
Retinal arteriolar tortuosity 0.9345794392523363
Ureteral stenosis 0.9345794392523363
Abnormal oral cavity morphology 0.9345794392523363
Chronic otitis media 0.9345794392523363
Sensory neuropathy 0.9345794392523363
Abnormality of the hypothalamus-pituitary axis 0.9345794392523363
Purpura 0.9345794392523363
Granulomatosis 0.9345794392523363
Recurrent intrapulmonary hemorrhage 0.9345794392523363
Periorbital edema 0.9345794392523363
Glomerulonephritis 0.9345794392523363
Nail bed telangiectasia 0.9345794392523363
Recurrent skin infections 0.9345794392523363
Abnormal stomach morphology 0.9345794392523363
Gastroparesis 0.9345794392523363
Intestinal bleeding 0.9345794392523363
Gastrointestinal telangiectasia 0.9345794392523363
Bowel incontinence 0.9345794392523363
Elevated serum creatine kinase 0.9345794392523363
Spotty hypopigmentation 0.9345794392523363
Acral ulceration 0.9345794392523363
Abnormal phalangeal joint morphology of the hand 0.9345794392523363
Osteolytic defects of the phalanges of the hand 0.9345794392523363
Abnormality of facial soft tissue 0.9345794392523363
Sclerodactyly 0.9345794392523363
Constrictive median neuropathy 0.9345794392523363
Albuminuria 0.9345794392523363
Finger swelling 0.9345794392523363
Calcinosis cutis 0.9345794392523363
Anti-topoisomerase I antibody positivity 0.9345794392523363
Anti-centromere antibody positivity 0.9345794392523363
Raynaud phenomenon 0.9345794392523363
Digital pitting scar 0.9345794392523363
Interstitial cardiac fibrosis 0.9345794392523363
Cutaneous sclerotic plaque 0.9345794392523363
Atrial septal defect 0.9345794392523363
Abnormal tricuspid valve morphology 0.9345794392523363
Abnormality of the pulmonary artery 0.9345794392523363
Hypercoagulability 0.9345794392523363
Abnormal mitral valve morphology 0.9345794392523363
Deviation of finger 0.9345794392523363
Abnormal platelet function 0.9345794392523363
Abnormality of the hand 0.9345794392523363
Clumsiness 0.9345794392523363
Proximal muscle weakness in lower limbs 0.9345794392523363
Hypersexuality 0.9345794392523363
Kayser-Fleischer ring 0.9345794392523363
Acute hepatitis 0.9345794392523363
Dilatation of the cerebral artery 0.9345794392523363
Hypospadias 0.9345794392523363
Low anterior hairline 0.9345794392523363
Short neck 0.9345794392523363
Downslanted palpebral fissures 0.9345794392523363
Telecanthus 0.9345794392523363
Thick eyebrow 0.9345794392523363
Synophrys 0.9345794392523363
Periodontitis 0.9345794392523363
Pectus carinatum 0.9345794392523363
Aortic valve stenosis 0.9345794392523363
Mitral stenosis 0.9345794392523363
Short toe 0.9345794392523363
Coarse hair 0.9345794392523363
Intestinal malrotation 0.9345794392523363
Absent frontal sinuses 0.9345794392523363
Platybasia 0.9345794392523363
Downturned corners of mouth 0.9345794392523363
Patellar dislocation 0.9345794392523363
Syringomyelia 0.9345794392523363
Decreased skull ossification 0.9345794392523363
Biconcave vertebral bodies 0.9345794392523363
Hypoplastic 5th lumbar vertebrae 0.9345794392523363
Short distal phalanx of finger 0.9345794392523363
Hypoplasia of the zygomatic bone 0.9345794392523363
Partial absence of toe 0.9345794392523363
Hyperinsulinemic hypoglycemia 0.9345794392523363
Nonketotic hypoglycemia 0.9345794392523363
Abnormal rapid eye movement sleep 0.9345794392523363
Polyphagia 0.9345794392523363
Abnormality of the pancreatic islet cells 0.9345794392523363
Fluctuations in consciousness 0.9345794392523363
Fasting hyperinsulinemia 0.9345794392523363
Transient global amnesia 0.9345794392523363
Abnormality of pain sensation 0.9345794392523363
Reactive hypoglycemia 0.9345794392523363
Neuroendocrine neoplasm 0.9345794392523363
Urticaria 0.9345794392523363
Asthma 0.9345794392523363
Chronic leukemia 0.9345794392523363
Impaired temperature sensation 0.9345794392523363
Mastocytosis 0.9345794392523363
Angioedema 0.9345794392523363
Erythroid hypoplasia 0.9345794392523363
Poor wound healing 0.9345794392523363
Prolonged partial thromboplastin time 0.9345794392523363
Spontaneous, recurrent epistaxis 0.9345794392523363
Prolonged bleeding after surgery 0.9345794392523363
Joint hemorrhage 0.9345794392523363
Prolonged bleeding after dental extraction 0.9345794392523363
Reduced factor IX activity 0.9345794392523363
Intramuscular hematoma 0.9345794392523363
Cephalohematoma 0.9345794392523363
Delayed onset bleeding 0.9345794392523363
Menometrorrhagia 0.9345794392523363
Abnormal renal physiology 0.9345794392523363
Clinodactyly of the 5th toe 0.9345794392523363
Esophageal carcinoma 0.9345794392523363

Cohort genome coverage analysis

Distribution of the genome coverage of all mutations characterized in the cohort. Second figure shows the same results for SORs.

No genomic data was specified for this cohort

No genomic data was specified for this cohort

Distribution of mutations

Distribution of all mutations along the genome (Length) and the number of patients that have at least one of them (Count). Second figure shows the same for SORs.

NO DATA

No genomic data was specified for this cohort

HPO annotations distribution

Analysis of the HPO terms within the HPO ontology and the cohort of patients. Left: distribution of terms within the ontology and the cohort. Right: percentage of terms distribution within the ontology and the cohort.

HPOs frequency distribution. Colour based on the HPO frequency.

Clustering patients by HPO profile

All patients are clustered using their HPO profiles. First figure shows the information coefficient distribution for the top clusters. Second figure shows which chromosomes are affected in the patients for each top cluster.

Genomic data was not specified

HPO profile redundancy

For each patient profile size (number of phenotypes, x-axis) it is shown the number of HPO phenotypes that are parent of other terms within the profile (number of parent terms, y-axis).

HPO ICs distribution

First figure shows the ICs distribution in terms of the HP ontology (x-axis) and for each single HPO term, its frequency in the cohort according to the HP ontology structure (y-axis) and the second figure shows the same distributions considering the profiles analyzed.

HPO frequency by cluster

Patients in Cluster 0 Phenotypes Frequency
2 Subcutaneous nodule, Abdominal pain, Gastrointestinal dysmotility, Abnormal renal physiology 100.0, 50.0, 100.0, 50.0

Patient profiles heatmaps

For each patient, their HPO profile similarity coefficient is calculated according to the different methods specified in the analysis and represented in these heatmaps.